A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782684



Internal ID18830304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:24459689..24522545hg38UCSC Ensembl
Innerchr12:24612623..24675479hg19UCSC Ensembl
Innerchr12:24503890..24566746hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3862857
hg1962857
hg1862857
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892161
Supporting Variants
Samples
Known GenesSOX5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=18
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782684
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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